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Acceptor Splice Site SNP

Known as: Intronic, Acceptor Splice Site SNP 
A heritable single nucleotide polymorphism located at the acceptor splice site in certain allelic variants of eukaryotic genes. These sites are… 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes
Purpose To present a detailed, reliable long range-PCR and sequencing (LR-PCR-Seq) procedure to identify human opsin gene… 
2017
2017
A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle
Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny… 
2015
2015
Identification of a putative quantitative trait nucleotide in guanylate binding protein 5 for host response to PRRS virus infection
Previously, we identified a major quantitative trait locus (QTL) for host response to Porcine Respiratory and Reproductive… 
2014
2014
Single-nucleotide polymorphism associations in common with immune responses to measles and rubella vaccines
Single-nucleotide polymorphisms (SNPs) in candidate immune response genes were evaluated for associations with measles- and… 
2013
2013
Alzheimer disease: The quest for Alzheimer disease genes—focus on CSF tau
Alzheimer disease (AD)-associated loci identified by genome-wide association studies (GWAS) only partly explain the genetic risk… 
2010
2010
The role of molecular genetics in the diagnoses of sudden arrhythmic death syndromes in New Zealand
Any use you make of these documents or images must be for research or private study purposes only, and you may not make them… 
2007
2007
Alternative splicing due to an intronic SNP in HMSD generates a novel minor histocompatibility antigen
2006
2006
Alternative Splicing Due to an Intronic SNP Defines a Novel HLA-B44-Restricted-Hematopoiesis-Restricted Minor Histocompatibility Antigen.
Minor histocompatibility antigens (mHAgs) with expression limited to hematopoietic cells represent attractive targets for… 
2005
2005
cDNA sequence of the horse (Equus caballus) LAMA3 gene and characterization of two intronic SNP markers
Laminins are large heterotrimeric basement membrane glycoproteins composed of α, β and γ chains. The Laminin 5 isoform has an α3… 
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